Sanfilippo Syndrom Eliza

Eliza O'Neill's Journey with Sanfilippo Syndrome

A Rare and Devastating Disease

In 2013, Eliza O'Neill was diagnosed with Sanfilippo Syndrome, a rare terminal neurodegenerative disease. Sanfilippo Syndrome affects children and causes progressive loss of cognitive and physical abilities. It is caused by a deficiency in the enzyme heparan-N-sulfatase, which leads to the accumulation of harmful substances in the brain and body.

Eliza's parents were devastated by the diagnosis. They embarked on a journey to learn as much as they could about Sanfilippo Syndrome and find ways to support their daughter. They discovered that there was no cure for the disease, but there were treatments that could help improve Eliza's quality of life and slow the progression of her symptoms.

The Impact on Family

Parents of children with Sanfilippo Syndrome face significantly more decisions on a daily basis.

They must choose the best medical treatments, manage medications, and provide extensive care for their child. They also have to deal with the emotional toll of watching their child suffer and knowing that there is no cure. The stress and uncertainty can be overwhelming.

Eliza's Story

Eliza is a vibrant and loving child who brings joy to her family. She enjoys playing with her siblings, listening to music, and going for walks. Despite the challenges she faces, Eliza maintains a positive attitude and inspires those around her.

At just 3 years old, Eliza ONeill was diagnosed with Sanfilippo syndrome, a genetic debilitating.

Her parents, Brian and Kelly, were devastated by the news. They had never heard of Sanfilippo syndrome before, and they didn't know what to expect. They quickly learned that Sanfilippo syndrome is a rare and fatal disease that affects children. It causes progressive damage to the brain and nervous system, and it can lead to a variety of health problems, including intellectual disability, seizures, and blindness.

Brian and Kelly were determined to give Eliza the best life possible. They researched the disease and found out about experimental treatments that could help slow the progression of her symptoms. They also joined a support group for families with children with Sanfilippo syndrome. Through the support group, they met other families who were going through the same challenges they were.

Eliza is now 5 years old, and she is still doing well despite the challenges she faces. She is a happy and loving child, and she brings joy to everyone who knows her. Brian and Kelly are grateful for the support they have received from their family, friends, and the Sanfilippo syndrome community.

Eliza's story is a reminder that even in the face of adversity, there is always hope. With love and support, children with Sanfilippo syndrome can live happy and fulfilling lives.